Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor

Objective: To report the transmission of unsuspected X-linked ocular albini sm in an oocyte donor program. Design: Case report. Setting: University medical center. Patient(s): A 24-year-old white female oocyte donor and the outcomes of thr ee recipient pregnancies. Intervention(s): Clinical assessment and molecular diagnostic tests. Main Outcome Measure(s): Mutation detection. Result(s): Demonstration of carrier status and multiple transmissions of a mutant allele. Conclusion(s): We describe the transmission of a mutant allele for X-linked ocular albinism from an unsuspected carrier female oocyte donor to three i ndependent pregnancies. We emphasize the need for diligent inquisition to c larify any unusual history of ocular or constitutional signs that might sig nify an X-linked disorder. (Fertil Steril(R) 1998;70:1169-72. (C) 1998 by A merican Society for Reproductive Medicine.).